ClinVar Miner

List of variants in gene CACNA1S reported by PreventionGenetics

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Gene type:
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Total variants: 72
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HGVS dbSNP
NM_000069.2(CACNA1S):c.1371T>G (p.Pro457=) rs12742170
NM_000069.2(CACNA1S):c.1373T>A (p.Leu458His) rs12742169
NM_000069.2(CACNA1S):c.1383C>G (p.Thr461=) rs144920422
NM_000069.2(CACNA1S):c.1393+16G>A rs374866886
NM_000069.2(CACNA1S):c.1393+7C>T rs3767512
NM_000069.2(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.2(CACNA1S):c.1458G>A (p.Leu486=) rs528563981
NM_000069.2(CACNA1S):c.1491C>T (p.Asn497=) rs16847674
NM_000069.2(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.2(CACNA1S):c.1515T>C (p.Cys505=) rs9427714
NM_000069.2(CACNA1S):c.152+17G>C rs113558244
NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.2(CACNA1S):c.1551T>C (p.Gly517=) rs4915477
NM_000069.2(CACNA1S):c.1564C>T (p.Leu522=) rs4915476
NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.2(CACNA1S):c.1828-5T>C rs1998721
NM_000069.2(CACNA1S):c.1948+10C>G rs201173419
NM_000069.2(CACNA1S):c.1948+10C>T rs201173419
NM_000069.2(CACNA1S):c.1948+18G>A rs113175669
NM_000069.2(CACNA1S):c.1948+19G>A rs886038222
NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.2(CACNA1S):c.2063+7G>T rs79984703
NM_000069.2(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.2(CACNA1S):c.2227+15G>A rs192276596
NM_000069.2(CACNA1S):c.2361-13C>T rs2182117
NM_000069.2(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.2(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.2(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.2(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.2(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.2(CACNA1S):c.2745+14C>T rs74138824
NM_000069.2(CACNA1S):c.2746-14C>T rs113792034
NM_000069.2(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.2(CACNA1S):c.2906+17G>A rs202089480
NM_000069.2(CACNA1S):c.3053+13T>C rs41267501
NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.3525+18C>T rs56021911
NM_000069.2(CACNA1S):c.3795+3G>A rs191758096
NM_000069.2(CACNA1S):c.3796-11C>T rs369565379
NM_000069.2(CACNA1S):c.3796-9G>A rs142184434
NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.2(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.2(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.2(CACNA1S):c.3953+6C>T rs115707724
NM_000069.2(CACNA1S):c.3953+7G>A rs141071505
NM_000069.2(CACNA1S):c.399-14C>T rs116534514
NM_000069.2(CACNA1S):c.4113+7T>C rs6702590
NM_000069.2(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.2(CACNA1S):c.4543+7G>A rs2297905
NM_000069.2(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.2(CACNA1S):c.4668+19T>C rs140742077
NM_000069.2(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.2(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497
NM_000069.2(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149
NM_000069.2(CACNA1S):c.5079G>A (p.Glu1693=) rs776228804
NM_000069.2(CACNA1S):c.5134+8C>T rs114243233
NM_000069.2(CACNA1S):c.5135-7C>T rs886038223
NM_000069.2(CACNA1S):c.5371-19C>T rs201064986
NM_000069.2(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.2(CACNA1S):c.541+9C>T rs375541532
NM_000069.2(CACNA1S):c.5490_5497delAGAGCTAC (p.Leu1832Argfs) rs554596425
NM_000069.2(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.2(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.2(CACNA1S):c.597C>T (p.Ile199=) rs2296383
NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.2(CACNA1S):c.984G>T (p.Leu328=) rs367685667

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